Publicacions
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Step K, Hernández CF, Khani M, Eltaraifee E, Hernández-Medrano AJ, Kung PJ, Ostrožovicová M, Zirra A, Pérez-Palma E, Mencacci NE, Keller Sarmiento IJ, Morris HR, Mata IF, Acosta-Uribe J, Fang ZH and Bandres-Ciga S.
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.
MOVEMENT DISORDERS . 41(5): 1128-1140.
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Cantarero-Abad L, Hoenicka J and Palau F.
Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy
Biomolecules . 16(2): .
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Lim KS, Periñan MT, Chew EGY, Lee PS, Akçimen F, Lim JL, Koretsky MJ, Funayama M, Yoshino H, Hattori N, Kaiyrzhanov R, Houlden H, Isayan M, Tay YW, Toh TS, Lit LC, Khairul Anuar AN, Ding HX, Screven L, Ibrahim NM, Lin CH, Kim HJ, Lee JY, Chung SJ, Foo JN, Tan EK, Lim SY, Huey A, Bandres-Ciga S and Ahmad-Annuar A.
Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.
npj Parkinsons Disease . 12(1): 51-51.
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Sun W, Schulte C, Gasser T and Tan M.
TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.
npj Parkinsons Disease . 11(1): 348-348. Nº de cites: 3
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . 98(6): 1335-1351. Nº de cites: 1
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Pascual-Rodriguez A, Moulka, T, de Fàbregues, O, Repossi, R, García-Ruiz, PJ, Ortolano, S, De Lucca, M, Vela-Desojo, L, Alves-Villar, M, Frías, M, Feliz-Feliz, C, Roldan-Molina M, Olival, J, Fernandez-Isern G, Palau F, Pijuan-Marquilles J and Hoenicka J.
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 26(19): .
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Saffie-Awad P, Grant SM, Makarious MB, Elsayed I, Sanyaolu AO, Crea PW, Schumacher Schuh AF, Levine KS, Vitale D, Koretsky MJ, Kim J, Peixoto Leal T, Periñán MT, Dey S, Noyce AJ, Reyes-Palomares A, Rodriguez-Losada N, Foo JN, Mohamed W, Heilbron K, Norcliffe-Kaufmann L, Rizig M, Okubadejo N, Nalls MA, Blauwendraat C, Singleton A, Leonard H, Mata IF and Bandres-Ciga S.
Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores.
npj Parkinsons Disease . 11(1): 201-201. Nº de cites: 5
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Vela-Desojo L, Pascual-Rodriguez A, Montal V, Guerrero C, Osuna-Lopez M, Guallar V, Palau F and Hoenicka J.
A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A.
npj Parkinsons Disease . 11(1): 154-154. Nº de cites: 3
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Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls MA, Mencacci NE, Morris HR, Singleton AB, Klein C, Blauwendraat C and Fang ZH.
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
npj Parkinsons Disease . 11(1): 58-58. Nº de cites: 3
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Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de cites: 10
